Objective To report the clinical and genetic features in a family with Mohr-Tranebjaerg syndrome (MTS).Methods After collecting clinical data of the family,visual and auditory evoked potentials,pure tone audiometry,transient evoked otoacoustic emissions and distortion product otoacoustic emissions were carried out in proband (Ⅲ5).The translocase of inner mitochondrial membrane 8 homolog A (TIMM8A) gene was sequenced in proband,Ⅰ2,Ⅱ 4 and Ⅱ 6.Results Ⅲ5,a 15-year-old boy presented with deafness,slurred speech,difficulty in finger extension and dystonia gradually since 2 years old.Ⅲ1,Ⅲ 2 and Ⅲ 3 presented with deafness at the age of 2.Ⅰ 2,Ⅱ 2,Ⅱ 4 and Ⅱ 6 showed mild decreased visual acuity at the age of 12.Visual evoked potentials revealed prolonged P100 latency in both eyes.Pure tone audiometry revealed severe sensorineural hearing loss.The auditory evoked potentials showed no wave in the bilateral ears.Otoacoustic emissions were not elicited bilaterally.A novel c.133-2delA mutation in TIMM8A gene was identified in Ⅲ 5,Ⅰ2,Ⅱ 4 and Ⅱ 6.Conclusions We confirm the MTS caused by a novel c.133-2delA mutation in TIMM8A gene.Except for the deafness,the development of other symptoms of the disease vary obviously from case to case in the same family.The female carriers with mild lesion of optic nerves.

BACKGROUND:Chronic al ograft nephropathy is a complication of kidney transplantation and most of patients wil eventual y develop transplant kidney dysfunction. Bone marrow mesenchymal stem cells as a low immunogenicity special cellpopulation have been shown to have differentiation, transdifferentiation, paracrine and other basic functions, which have been successful used in other clinical areas. Based on this characteristic, bone marrow mesenchymal stem cells may play a therapeutic role in chronic al ograft nephropathy. OBJECTIVE:To study the safety and feasibility of autologus bone marrow mesenchymal stem cells transplantation via renal artery infusion and subsequent intravenous infusion guided by the digital subtraction angiography in the treatment of chronic al ograft nephropathy. METHODS:Eleven patients with chronic al ograft nephropathy who were confirmed from March 2011 to January 2013 were enrol ed, and then received transplant renal artery infusion once guided by the digital subtraction angiography and subsequent intravenous infusion twice of bone marrow mesechymal stem cells. Changes in serum creatinine, blood urea nitrogen, creatinine clearance, cystatin C, 24-hour urine protein, andβ2 microglobulin in the blood and urinary were monitored in patients up to 1 year after treatment. RESULTS AND CONCLUSION:Bleeding, transplant renal artery embolization, pseudoaneurysm and other related complications were not found in any of the 11 patients. The levels of serum creatinine, blood urea nitrogen and cystatin C were significantly decreased at 1 week and 1 month after celltherapy (P<0.05), while after 3 months of treatment, there was no difference before and after treatment (P>0.05). The creatinine clearance at 1 week and 1 month after treatment showed a remarkable increase, which were significantly different from that before treatment (P<0.05), but after 3 months of treatment, the difference was not significant (P>0.05). The level of 24-hour urine protein was significantly decreased after 7 days of treatment (P<0.05), and no difference was found after 1 month (P>0.05). The level ofβ2 microglobulin in the blood and urinary had no changes before and after treatment. These findings indicate that guided by the digital subtraction angiography, bone marrow mesenchymal stem cells via the renal artery infusion and subsequent intravenous infusion can improve kidney function of patients, but the celldosage and infusion method remain to be solved.

Objective To discuss the advantages of postoperative early ambulation for patients after high-viscosity bone cement injection treatment for osteoporotic vertebral compression fracture.Methods A total of 42 patients with osteoporotic vertebral compression fracture were divided into the study group (n=21)and the control group (n=21).High-viscosity bone cement injection was used to perform percutaneous vertebroplasty for the patients in the study group,while low-viscosity bone cement injection was adopted to complete percutaneous vertebroplasty for the patients in the control group.The patients of the study group were asked to get out of bed in 4 hours after vertebroplasty and to do off-bed activity in 8 hours after vertebroplasty,while the patients of the control group were asked to get out of bed in 12 hours after vertebroplasty and to do off-bed activity in 24 hours after vertebroplasty.CT reexamination was performed within 3 days after vertebroplasty to observe the paravertebral leakage and the cement distribution in vertebrae.The visual analogue scale (VAS),the ability score of daily life activy (Barthel),the risk score of pressure skin ulcer (Braden) and the risk rating of deep venous thrombosis were used to evaluate the clinical effectiveness for both groups.Results The procedure of vertebroplasty was successfully accomplished in all patients of both groups.No statistically significant differences in VAS score and in Barthel score at 24 hours and 7 days after vertebroplasty existed between the two groups (P＞0.05).Eight days after vertebroplasty,the differences in Barthel score,Braden score and the risk rating of deep venous thrombosis between the two groups were statistically significant (P＜0.05),although the difference in VAS score between the two groups was not statistically significant.Conclusion In treating osteoporotic vertebral compression fracture by using high-viscosity bone cement injection,postoperative early ambulation can effectively improve the patient's daily activities,reduce the risk of the formation of pressure skin ulcer and deep vein thrombosis,thus,reduce the nursing workload for both nurses and patient's family members.(J Intervent Radiol,2017,26:749-752).

Objective To discuss the perioperative nursing measures for patients with osteoporotic vertebral compression fractures who are receiving percutaneous vertebroplasty (PVP) treatment by using high viscosity bone cement.Methods A total of 30 patients with osteoporotic vertebral compression fractures were included in this study.All patients were treated with PVP by using high viscosity bone cement.Preoperative routine nursing,psychological intervention,dietary intervention,postoperative guidance of rehabilitation exercise of limbs,close observation of bone cement leakage were strictly implemented,and the corresponding nursing measures were promptly taken when needed.Results Through strict implement of the nursing intervention all 30 patients could actively cooperate with PVP treatment,and after PVP the pain was significantly relieved in all patients.Conclusion Adequate preoperative preparation,proper postoperative guidance,careful observation and effective nursing can help the patients resume their daily life activities as soon as possible,relieve the pain,and improve the quality of life as well.(J Intervent Radiol,2017,26:274-276)

Objective:To study the correlations of micro RNA (miR)-432 expression with cell proliferation and migration, and tripartite motif containing protein 38 ( TRIM38) gene expression in isocitrate dehydrogenase ( IDH) wild-type glioma, and overall survival (OS) of these patients. Methods:(1) The miRNA expression microarray data of 198 glioma patients (81 with IDH mutant, 106 with IDH wild type and 11 with unknown type) and 5 nontumorous brain tissues (controls) were downloaded from China Glioma Genome Atlas (CGGA); expression differences of miR-432 between IDH mutant and IDH wild type glioma subgroups and normal controls were compared. According to the median value of miR-432 expression in IDH wild-type glioma samples, these patients were divided into miR-432 high expression group ( n=51) and miR-432 low expression group ( n=53), Kaplan-Meier survival analysis was used to compare the OS, univariate and multivariate Cox regression analyses were used to determine the factors influencing OS, and Pearson correlation was used to analyze the relation between miR-432 expression and TRIM38 gene expression. (2) Human glioma cell line U251 was routinely cultured and divided into nonsense sequence control group and miR-432 mimics group; CCK-8 assay was used to detect the cell viability on the 1 st-5 th d of cultivation; Transwell assay was used to detect the cell migration; quantitative reverse transcription PCR (RT-qPCR) was used to detect the TRIM38 mRNA expression. (3) According to the binding sites between miR-432 and TRIM38 gene predicted by miRNA target gene prediction database, the wild-type TRIM38 3'-terminal untranslated region (3'-UTR) and mutant TRIM38 3'-UTR sequences were designed; U251 cells were divided into miR-432 nonsense sequence+wild-type TRIM38 3'-UTR group, miR-432 mimics+wild-type TRIM38 3'-UTR group, miR-432 nonsense sequence+mutant TRIM38 3'-UTR group, and miR-432 mimics+mutant TRIM38 3'-UTR group; the luciferase activity in these 4 groups was detected by microplate assay. Results:(1) The miR-432 expression in IDH wild-type glioma was significantly decreased as compared with that in the IDH mutant one ( P<0.05). The OS of patients in the miR-432 low-expression group was significantly shorter as compared with that in the miR-432 high-expression group ( P<0.05). Age, glioma grading, and miR-432 expression were significantly correlated with OS of IDH wild-type glioma patients ( P<0.05), but miR-432 expression level was not an independent influencing factor for OS ( P>0.05). The miR-432 and TRIM38 mRNA expressions in IDH wild-type glioma samples were negatively correlated ( r=-0.255, P=0.018). (2) As compared with nonsense sequence control group, miR-432 mimics group had significantly lower cell activity on the 2 rd-5 th d of cultivation, significantly smaller number of migrated cells, and statistically decreased TRIM38 mRNA expression ( P<0.05). (3) The luciferase activity of cells in the miR-432 mimics+wild-type TRIM38 3'-UTR group was significantly lower than that in the miR-432 nonsense+wild-type TRIM38 3'-UTR group ( P<0.05). Conclusion:The miR-432 expression is low in IDH wild-type glioma tissues, and it is associated with poor prognosis of these patients; miR-432 overexpression can inhibit the proliferation and migration of glioma cells, which may be related to its specific binding of TRIM38 gene and interference the expression of this gene.

Objective To study the pathological changes of renal grafts from elderly donor in young recipients and to investigate the safety of kidney transplantation from elderly donors.Methods Fourteen elderly kidney donors (with the age >55 years old)and fourteen young recipients (with the age <30 years old)underwent living related donor renal transplantation at the Department of Transplantation of the Second Affiliated Hospital of Guangzhou Medical University from January 2008 to December 2008 were enrolled as the object of study.Every elderly donor kidney was performed time-zero biopsy and every young recipient was performed routine renal graft biopsy 6 months after transplantation.The pathological and structural changes of kidney tissues after renal transplantation from elderly donors were observed.Results The histopathological changes occurred at 6 months after transplantation from elderly kidney donors to young recipients.Compared with those before transplantation,the severity of renal arteriolar lesion and the index of renal arteriolar sclerosis alleviated after transplantation (P <0.05 ), and the ratio of glomerulosclerosis did not change after transplantation (P >0.05 ).The expression of fibronectin (FN)decreased after transplantation,but the difference had no statistical significance (P >0.05 ).The expression of laminin (LN ) decreased after transplantation (P <0.05).Conclusions The histopathological structure of renal graft from elderly donors in young recipients has improved.

Objective To investigate the application value of ImmuKnow immune cell function assay in monitoring of immune function changes after renal transplantation.Methods One hundred and six patients with uraemia undergoing renal transplantation in the Department of Organ Transplantation of the Second Affiliated Hospital of Guangzhou Medical University from January 201 3 to December 201 4 were included.Blood specimens were collected before transplantation and at the occurrence of infection or acute rejection during 1 2 months after transplantation.ImmoKnow was used to determine the adenosine triphosphate (ATP)content in CD4 +T cells.The ATP content of patients with renal transplantation at different clinical conditions were observed and compared,including periopreative group,stable group,acute rejection group and infecticn group (including severe pneumonia).The ratio of T cell subsets (CD4 +T cells,CD8 +T cells)and natural killer (NK)cells in peripheral blood were detected.Pearson correlation analysis was used to detect the association between ATP and the blood trough concentration of tacrolimus (FK506)and ciclosporin (CsA).Results The ATP content of the patients in the infection group was lower than that of the patients in the stable group (P <0.001 ).The ATP content of patients with severe pneumonia was lower than that of patients with other infections (P <0.05).The percentage of CD4 +T cells of the patients in the infection group was lower than that of the patients in the postoperative stable group (P <0.05 ). The ATP content was not associated with the postoperative blood trough concentration of FK506 and CsA.Conclusions ImmuKnow assay may be used to monitor the postoperative immune function of patients after renal transplantation.The detection of ATP content in CD4 + T cells has hinting and pre-warning function for postoperative infection,especially for severe pneumonia.

Objective To investigate the safety of young recipients undergoing living donor renal transplantation from elderly relative donors through long-term follow-up of the pathological changes. Methods According to the age of donors, 28 young recipients were divided into the observation group (n=14, elderly donors) and control group (n=14, young and middle-aged donors). The 7-year survival after renal transplantation, the serum creatinine (Scr) levels at various postoperative time points were compared between two groups. The chronic pathological injury scores of renal allograft biopsy at time-zero, postoperative 6-month and 7-year were compared between two groups. The expression levels of renal interstitial fibrosis indicators connective tissue growth factor (CTGF), transforming growth factor (TGF)-β, laminin (LN), fibronectin (FN), cell senescence indicators intercellular connexin (Cx)-43 and mammalian target of rapamycin (mTOR) at postoperative 6-month and 7-year were compared between two groups. Results The 7-year survival rates in the observation and control groups were 78.5% and 92.8% with no statistical significance (P > 0.05). In the observation and control groups, the levels of Scr were 190 and 160 μmol/L at the postoperative 7 d, and 170 and 125 μmol/L at postoperative 1 month. At each postoperative time point, the levels of Scr in the observation group were significantly higher than those in the control group (all P > 0.05). The total chronic pathological injury scores of renal transplant biopsy at time-zero in the observation group was significantly higher than that in the control group (P > 0.05), whereas the total chronic pathological injury scores at postoperative 7-year did not significantly differ between two groups (P > 0.05). Within either group, the total chronic pathological injury scores at postoperative 7-year was remarkably higher than those at time-zero and postoperative 6-month (both P < 0.05). The expression levels of CTGF, TGF-β, LN, FN, mTOR, Cx43 of renal transplant tissue at postoperative 7-year did not significantly differ between two groups (all P > 0.05). Conclusions The long-term follow-up outcomes demonstrate that the pathological changes of young recipients undergoing renal transplantation from elderly donors are similar to those from young and middle-aged donors. It is safe and feasible for young recipients to undergo renal transplantation from elderly donors in the pathological perspective.

Objective:The included angle of the outermost edge of the pedicle and the front edge of the central line of T12, L1, and L12 in the axial projection was compared before surgery (the incidence angle of the pedicle was set as α). A horizontal line passing through point C was made to cross the inner edge of the pedicle in the axial projection and the intersection point was designated as point D. The distance between point C and point D was compared among T12, L1, and L2. The advantages and feasibility of the measurement of these parameters for guiding puncture and bone cement injection in L1 percutaneous vertebroplasty were investigated.Methods:The clinical data of 91 patients with L1 osteoporotic vertebral compression fracture who underwent percutaneous vertebroplasty in The First People's Hospital of Chu Zhou from January 2018 to November 2021 were retrospectively analyzed. Axial α and CD of the L1 vertebral body and its adjacent vertebral bodies were measured. The amount of bone cement injected during the surgery, bone cement leakage rate, and pre- and post-surgery Visual Analogue Scale score were determined.Results:The α and CD of L1 in the axial projection were (20.43 ± 1.61)° and (5.37 ± 1.08) mm, respectively. Bone cement leakage rates of unilateral and bilateral approaches of L1 vertebral body were 35% and 12%, respectively, and there was a significant difference between the two approaches ( χ2 = 6.08, P < 0.05). There was no significant difference in the amount of bone cement injected during the surgery between unilateral and bilateral approaches of L1 ( P > 0.05). There was no significant difference in pre- and post-surgery Visual Analogue Scale scores between unilateral and bilateral approaches of L1 ( P > 0.05). Conclusion:The α and CD of L1 in the axial projection are smaller than those of other adjacent vertebral bodies, which is of great significance for selecting a puncture path and reducing bone cement leakage.

Objective To discuss the clinical effect of perioperative bundle of care for patients with advanced hepatocellular carcinoma (HCC) who are receiving CT-guided percutaneous minimally-invasive argon-helium knife cryoablation.Methods A total of 30 HCC patients,who underwent percutaneous argonhelium knife cryoablation,were enrolled in this study.Perioperative measures based on the concept of bundle of care were implemented,which included training of nursing team members,perfect preoperative psychological nursing,dietary guidance,preoperative routine preparations,effective intraoperative guidance and close observation of the patient's condition,postoperative activity guidance,prevention and observation of complications,etc.Results All 30 advanced HCC patients could actively cooperate with physicians for the performance of percutaneous argon helium cryoablation.After the treatment,two patients developed nausea and vomiting and one patient developed chills and fever,which were improved after symptomatic treatment.All the 30 patients recovered well during the perioperative period and were discharged from hospital smoothly.Conclusion Perioperative bundle of care can help patients restore the surgical damage as soon as possible,reduce the pain and improve the quality of life.